Canonical Allele Identifier: CA6839545

Gene: HPD

Linked Data

• dbSNP Id: rs777066816
• ExAC: 12:122284867 G / A
• gnomAD v2: 12-122284867-G-A
• gnomAD v4: 12-121846961-G-A
• MyVariant Identifiers: chr12:g.122284867G>A (hg19) ; chr12:g.121846961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846961G>A , CM000674.2:g.121846961G>A	GRCh38
NC_000012.11:g.122284867G>A , CM000674.1:g.122284867G>A	GRCh37
NC_000012.10:g.120769250G>A	NCBI36
NG_016461.1:g.46651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.760-28C>T MANE Select	ENSP00000289004.4:n.760-28C>T
ENST00000543163.5:c.643-28C>T	ENSP00000441677.1:n.643-28C>T
NM_001171993.1:c.643-28C>T	NP_001165464.1:n.643-28C>T
NM_002150.2:c.760-28C>T	NP_002141.1:n.760-28C>T
NM_002150.3:c.760-28C>T MANE Select	NP_002141.2:n.760-28C>T
NM_001171993.2:c.643-28C>T	NP_001165464.1:n.643-28C>T